These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families. Castro-Sánchez S; Álvarez-Satta M; Cortón M; Guillén E; Ayuso C; Valverde D J Med Genet; 2015 Aug; 52(8):503-13. PubMed ID: 26082521 [TBL] [Abstract][Full Text] [Related]
3. Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. Esposito G; Testa F; Zacchia M; Crispo AA; Di Iorio V; Capolongo G; Rinaldi L; D'Antonio M; Fioretti T; Iadicicco P; Rossi S; Franzè A; Marciano E; Capasso G; Simonelli F; Salvatore F BMC Med Genet; 2017 Feb; 18(1):10. PubMed ID: 28143435 [TBL] [Abstract][Full Text] [Related]
4. Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations. Kurata K; Hosono K; Hikoya A; Kato A; Saitsu H; Minoshima S; Ogata T; Hotta Y Jpn J Ophthalmol; 2018 Jul; 62(4):458-466. PubMed ID: 29666954 [TBL] [Abstract][Full Text] [Related]
5. Bardet Biedl syndrome in South Africa: A single founder mutation. Fieggen K; Milligan C; Henderson B; Esterhuizen AI S Afr Med J; 2016 May; 106(6 Suppl 1):S72-4. PubMed ID: 27245532 [TBL] [Abstract][Full Text] [Related]
6. Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. Ece Solmaz A; Onay H; Atik T; Aykut A; Cerrah Gunes M; Ozalp Yuregir O; Bas VN; Hazan F; Kirbiyik O; Ozkinay F Eur J Med Genet; 2015 Dec; 58(12):689-94. PubMed ID: 26518167 [TBL] [Abstract][Full Text] [Related]
7. Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Janssen S; Ramaswami G; Davis EE; Hurd T; Airik R; Kasanuki JM; Van Der Kraak L; Allen SJ; Beales PL; Katsanis N; Otto EA; Hildebrandt F Hum Genet; 2011 Jan; 129(1):79-90. PubMed ID: 21052717 [TBL] [Abstract][Full Text] [Related]
8. Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations. Florea L; Caba L; Gorduza EV Genes (Basel); 2021 Aug; 12(9):. PubMed ID: 34573333 [TBL] [Abstract][Full Text] [Related]
9. [Bardet-Biedl syndrome]. Rooryck C; Lacombe D Ann Endocrinol (Paris); 2008 Dec; 69(6):463-71. PubMed ID: 19019343 [TBL] [Abstract][Full Text] [Related]
11. Establishing a connection between cilia and Bardet-Biedl Syndrome. Mykytyn K; Sheffield VC Trends Mol Med; 2004 Mar; 10(3):106-9. PubMed ID: 15106604 [TBL] [Abstract][Full Text] [Related]
12. C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. Khan AO; Decker E; Bachmann N; Bolz HJ; Bergmann C Ophthalmic Genet; 2016 Sep; 37(3):290-3. PubMed ID: 26854863 [TBL] [Abstract][Full Text] [Related]
13. Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. M'hamdi O; Redin C; Stoetzel C; Ouertani I; Chaabouni M; Maazoul F; M'rad R; Mandel JL; Dollfus H; Muller J; Chaabouni H Clin Genet; 2014 Feb; 85(2):172-7. PubMed ID: 23432027 [TBL] [Abstract][Full Text] [Related]
14. Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. Chandrasekar SP; Namboothiri S; Sen P; Sarangapani S Indian J Med Res; 2018 Feb; 147(2):177-182. PubMed ID: 29806606 [TBL] [Abstract][Full Text] [Related]
15. Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review. Nowak-Ciołek M; Ciołek M; Tomaszewska A; Hildebrandt F; Kitzler T; Deutsch K; Lemberg K; Shril S; Szczepańska M; Zachurzok A Front Endocrinol (Lausanne); 2024; 15():1424819. PubMed ID: 39092285 [TBL] [Abstract][Full Text] [Related]
16. [Patho-physiology of renal dysfunction in Bardet-Biedl Syndrome]. Zona E; Zacchia M; Di Iorio V; Capolongo G; Rinaldi L; Capasso G G Ital Nefrol; 2017 Sep; 34(5):62-72. PubMed ID: 28963828 [TBL] [Abstract][Full Text] [Related]
17. Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. Mary L; Chennen K; Stoetzel C; Antin M; Leuvrey A; Nourisson E; Alanio-Detton E; Antal MC; Attié-Bitach T; Bouvagnet P; Bouvier R; Buenerd A; Clémenson A; Devisme L; Gasser B; Gilbert-Dussardier B; Guimiot F; Khau Van Kien P; Leroy B; Loget P; Martinovic J; Pelluard F; Perez MJ; Petit F; Pinson L; Rooryck-Thambo C; Poch O; Dollfus H; Schaefer E; Muller J Clin Genet; 2019 Mar; 95(3):384-397. PubMed ID: 30614526 [TBL] [Abstract][Full Text] [Related]
18. Genetics of human Bardet-Biedl syndrome, an updates. Khan SA; Muhammad N; Khan MA; Kamal A; Rehman ZU; Khan S Clin Genet; 2016 Jul; 90(1):3-15. PubMed ID: 26762677 [TBL] [Abstract][Full Text] [Related]
19. Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance. Jeziorny K; Antosik K; Jakiel P; Młynarski W; Borowiec M; Zmysłowska A Genes (Basel); 2020 Oct; 11(11):. PubMed ID: 33138063 [TBL] [Abstract][Full Text] [Related]
20. Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. Sathya Priya C; Sen P; Umashankar V; Gupta N; Kabra M; Kumaramanickavel G; Stoetzel C; Dollfus H; Sripriya S Clin Genet; 2015 Feb; 87(2):161-6. PubMed ID: 24400638 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]